Senior leader reflections: Paul Clift

University Hospitals Birmingham NHS Foundation Trust runs Good Hope, Heartlands, Queen Elizabeth and Solihull hospitals, the Birmingham Chest Clinic, and Solihull community services.

I became interested in cardiovascular disorders when I was training as a junior doctor and as a result, studied for a higher degree in pulmonary vascular disease. This was my first experience of dealing with a rare disease.

When I’d completed my post-graduate course, and became a cardiac trainee, I was interested in continuing working in pulmonary vascular physiology and chose a career specialising in looking after patients with rare congenital heart disorders.

In 2004 I was appointed as a consultant at the Queen Elizabeth Hospital Birmingham. During routine rounds on the cardiac unit, I noticed that some very young patients were coming onto the unit with aortic dissections – that’s where they get a tear in the main blood vessel of the body which is a life-threatening disorder. Aortic dissections generally affect older patients, so I set up a clinic that investigates whether a genetic disorder was at play in these younger patients. When I first started the service, we had eight genes that we could look for and now, due to advances in genomic research, we have 32 genes. We’ve since seen hundreds of patients, many of whom have been diagnosed with genetic disorders. We’ve been able to provide medical therapy and also carry out surgery on some patients to prevent them getting aortic dissection.

That service was delivered through the Centre for Rare Diseases and about four years ago I took on the role of Clinical Lead for the Centre. It was set up in 2015 and since then a huge amount of work has gone into expanding the clinical services and the number of different disorders we look at. We now support around 100 rare disorders, and we have patients referred to us from all over the country. We also collect data for the National Institute of Health and Care Research Rare Disease BioResource, which brings together research from centres nationally. Since the Centre opened, we’ve focused on clinical research as well as specialised care clinics and have recruited large numbers of patients to clinical trials into rare diseases.

We work closely with local partners, including the University of Birmingham and Birmingham Children’s Hospital, to coordinate our research and to share learnings and expertise. Some of our patients with rare diseases will have been under the care of the Children’s Hospital and transfer over to us when they’re adults, so it’s important we’re able to give continuity of care here at the Centre.

Several clinicians who now work in the Centre for Rare Diseases became involved in rare diseases because of what they were seeing on the wards or in their clinics in our hospitals, in their specialty areas. We cover a wide range of rare conditions using the expertise of multiple specialist teams from across the wider Trust and run clinics for liver, renal, metabolic, endocrine, cardiac and neurological disorders, amongst others. The benefit of being able to receive care at the Centre is that, although a disorder is classed as ‘rare’, it won’t necessarily be rare to the clinician they’re seeing. They will likely have seen many patients with that disorder and that can be a huge comfort for a patient. They can also often access all their care in a single setting with multiple clinical teams, reflecting the multiple organ systems that can be affected in a rare disease.

Whilst we think that patients with a rare disease will all be similar it’s interesting to see that two patients can have the same genetic disorder and yet be so different. Even within the same family, you can have relatives with an identical mutation at an identical point in the same gene, and yet their physical characteristics will be different. I find this fascinating and it’s one of the drivers of our research. There’s also a huge amount of satisfaction from having knowledge that helps others get through their day.

I will often say to patients following aortic dissection ‘you probably won’t have been told this, but one of the symptoms you’ll often struggle with is exhaustion’ and they’ll be relieved and often say ‘you’re the first person who has said that’. It’s back to that thing of although it’s classed as a rare disorder, it’s not rare for us in the Centre.

Another special thing about working with rare diseases is that your relationship with patients often spans many years, so I might have seen a patient when they first experienced complications that led to the diagnosis of a rare disease, and they’ll be with me years later still coming to clinic. For all of us who work here, it’s a journey with our patients and there’s a huge amount of trust that comes with that.

Working in rare diseases means I’m very well occupied, but when I’m not at work I coach my son’s football team. It’s something different, I find it relaxing and it’s a great lesson in team building. We’re fortunate to have a really tight-knit team at the Centre and we’re all really proud of what we deliver. We provide care for some of the largest groups of patients with rare diseases under one roof, with internationally recognised services. We can be pretty modest about that, but the Centre for Rare Diseases benefits patients all over the UK, and we should celebrate the work that our teams do here in Birmingham.

Thursday 29 February is Rare Disease Day, a day that raises awareness of the 300 million people worldwide living with a rare disease, and of their families and carers.

Since opening in 2015, the Centre for Rare Diseases at Queen Elizabeth Hospital Birmingham has held more than 65,000 appointments with patients with rare diseases across 100 different clinics. More than 4,000 studies have been conducted at the Institute of Translational Medicine, which houses the Centre for Rare Diseases. The Centre was funded by Queen Elizabeth Hospital Birmingham Charity.

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